Novel missense mutations in PRPF6 cause autosomal dominant retinitis pigmentosa with incomplete penetrance and impairment of PRPF6 protein localization within the nucleus

Guillaume Olivier; Béatrice Bocquet; Carlo Rivolta; Audrey Sénéchal; Agnès Muller; Christian Hamel; Catherine Creuzot-Garcher; Isabelle Meunier; Gaël Manes

Poster de colloque

Novel missense mutations in PRPF6 cause autosomal dominant retinitis pigmentosa with incomplete penetrance and impairment of PRPF6 protein localization within the nucleus

Guillaume Olivier, Béatrice Bocquet, Carlo Rivolta, Audrey Sénéchal, Agnès Muller, Christian Hamel, Catherine Creuzot-Garcher, Isabelle Meunier et Gaël Manes

Association for Research in Vision and Ophthalmology (ARVO) (Baltimore, United States, 03/05/2020–07/05/2020)

Fichiers et liens (1)

url

Find in HALAfficher

Indicateurs

1 Consultations de la notice

Détails

Titre: Novel missense mutations in PRPF6 cause autosomal dominant retinitis pigmentosa with incomplete penetrance and impairment of PRPF6 protein localization within the nucleus
Créateurs - sans rôle: Guillaume Olivier
Béatrice Bocquet
Carlo Rivolta
Audrey Sénéchal
Agnès Muller
Christian Hamel
Catherine Creuzot-Garcher - Charmo University
Isabelle Meunier
Gaël Manes - Université de Montpellier, Institut des Neurosciences de Montpellier - INM
Colloque: Association for Research in Vision and Ophthalmology (ARVO) (Baltimore, United States, 03/05/2020–07/05/2020)
Identifiants: 99153212109311
Unité académique: Institut des Neurosciences de Montpellier - INM
Langue: English
Type de ressource: Conference poster
Champs locaux: hal-04954725